Article ; Online: Infantile hemiparesis and porencephaly due to a COL4A1 mutation: Gould syndrome.
BMJ case reports
2024 Volume 17, Issue 2
Abstract: Gould syndrome is an autosomal dominant syndrome due to a COL4A1 or COL4A2 mutation that is commonly characterised by familial porencephaly, seizures, intracranial haemorrhages, cataracts, nephropathies and more. There have been up to 137 identified ... ...
| Abstract | Gould syndrome is an autosomal dominant syndrome due to a COL4A1 or COL4A2 mutation that is commonly characterised by familial porencephaly, seizures, intracranial haemorrhages, cataracts, nephropathies and more. There have been up to 137 identified patients based on a review of the literature. In this case, we describe a male infant that presents with hemiparesis, developmental delay and gait abnormalities at his well-child check. Referral to neurology and a subsequent MRI demonstrated porencephaly and ocular lens abnormalities. Genetic sequencing uncovered a mutation to the COL4A1 gene, suggesting Gould syndrome. There are no family members with similar phenotypes. Mutations to the COL4A1 and COL4A2 genes result in disruption of collagen found in most basement membranes, resulting in a variety of phenotypes that can make diagnosis difficult. Genetic identification of these patients is critical as these patients require a multidisciplinary approach to care and specific counselling on risk reduction techniques. |
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| MeSH term(s) | Infant ; Humans ; Male ; Porencephaly/genetics ; Porencephaly/diagnosis ; Collagen Type IV/genetics ; Mutation ; Basement Membrane ; Phenotype ; Family |
| Chemical Substances | Collagen Type IV ; COL4A1 protein, human |
| Language | English |
| Publishing date | 2024-02-14 |
| Publishing country | England |
| Document type | Case Reports ; Journal Article |
| ISSN | 1757-790X |
| ISSN (online) | 1757-790X |
| DOI | 10.1136/bcr-2023-259103 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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